EC Number |
Protein Variants |
Reference |
---|
2.4.1.224 | C333R |
naturally occuring mutation in hereditary multiple exostoses syndrome |
736318 |
2.4.1.224 | C339D |
resistant in HSV-1 infection assay |
488962 |
2.4.1.224 | L462W |
naturally occuring mutation in hereditary multiple exostoses syndrome |
736318 |
2.4.1.224 | L46F |
naturally occuring mutation in hereditary multiple exostoses syndrome |
736318 |
2.4.1.224 | M87R |
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome |
736621 |
2.4.1.224 | more |
d620EXT1myc deletion mutant without 620 C-terminal amino acids, no enzymatic activity, ER localization |
488962 |
2.4.1.224 | more |
enzyme null mutant, dramatically reduced levels of heparan sulfate, impaired Hedgehog, Wingless and Decapentaplegic signalling, alterations in chondroitin sulfate composition and levels |
661563 |
2.4.1.224 | more |
enzyme null mutants, defects in Hedgehog and Decapentaplegic signalling, abnormal distribution of Wingless morphogen |
661562 |
2.4.1.224 | more |
generation of conditional Ext1 mutant mice by crossing the Ext1flox allele and the Prx1-Cre transgene |
-, 722677 |
2.4.1.224 | more |
generation of Ext1+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext1+/- mice compared to wild-type littermates |
736318 |